H54R (p.His54Arg) variant of ERCC5 (P28715)
H54R (p.His54Arg) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
H54R (p.His54Arg) variant details
- p.His54Arg
- ExAC rs748185385
- gnomAD rs748185385
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 25.50
- PolyPhen-2 0.28
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available